From: Fatal systemic disorder caused by biallelic variants in FARSA
Patient 1 (Present study) | Patient 2 (Krenke et al.) | Patient 3 (Schuch et al.) | Patient 4 (Schuch et al.) | Patient 5 (Schuch et al.) | |
---|---|---|---|---|---|
Sex | Male | Male | Female | Female | Male |
Age at last examination | Died at 28 months | 15 years | 17 years | Died at 1.3 years | Died at 12.9 years |
FARSA genotype | |||||
Variant 1 | c.1424G > A (R475Q) | c.776 T > C (F256L) | c.1210C > T (R404C) | c.883C > T (R295W) | c.829 T > G (F277V) |
Variant 2 | c.1040C > T (P347L) | c.1230C > A (N410K) | c.1254G > C (E418D) | c.883C > T (R295W) | c.829 T > G (F277V) |
Central nervous system | |||||
Neonatal hypotonia | + | + | + | + | – |
Motor delay | + | + | + | + | – |
Speech delay | + | – | + | + | – |
Brain imaging | Diffuse atrophy and calcifications at both deep grey matter | Subcortical calcifications Periventricular cysts | Multiple subcortical white matter lesions Elongated brain arteries | Normal by 1 month | Arachnoid cyst |
Nutrition and growth | |||||
Feeding intolerance | + | + | – | + | – |
Poor weight gain | + | + | + | + | + |
Vomiting and diarrhoea | + | + | – | + | – |
Lung involvement | |||||
Recurrent respiratory infection | + | + | + | + | + |
Interstitial lung disease | + | + | + | + | + |
Cholesterol pneumonitis | – | + | + | + | + |
Cystic lung disease | – | – | – | – | + |
Others | |||||
Renal involvement | |||||
Proteinuria | + | – | – | – | – |
Tubulopathy | + | – | – | + | – |
Vesicourethral reflux | – | + | – | – | – |
Others | Increased renal echogenicity | – | – | Nephrolithiasis | |
Hepatic involvement | |||||
Abnormal liver function | + | + | + | + | + |
Hepatosplenomegaly | + | + | + | + | – |
Liver steatosis | + | + | + | + | – |
Liver fibrosis | + | – | – | ||
Hormonal insufficiency | Subclinical hypothyroidism Adrenal insufficiency | Hypopituitarism | Growth hormone resistance | – | Growth hormone deficiency |
Dysmorphism/malformation | – | Deep-set eyes, elfin-like face | – | – | – |
Skeletal involvement | – | Scoliosis, arachnodactyly, pectus carinatum | Hyperflexible joints Arachnoid fingers | – | Pectus carinatum, hyperflexible joint |
Others | Pancytopenia | Left inguinal hernia Microcytic anaemia | – | Intermittent nystagmus | Sensorineural hearing loss |